Prenatal and foetal autopsy findings in glutaric aciduria type II.

Adriano Martinez-AracilRebeca Ruiz-OnandiAlvaro Perez-RodriguezAmaia SagastaIsabel Llano-RivasGuiomar Perez de Nanclares

Published in: Birth defects research (2020)

Clinical and foetal findings allowed the characterisation of the novel variant (c.706dupG at ETDFH) as pathogenic. Genotype-phenotype relationship is important when studying rare genetic disorders such as glutaric aciduria type II, as variants are usually family-specific, leading to a difficulty in the characterisation of their pathogenicity.

Keyphrases

copy number
gestational age
pregnant women
biofilm formation
escherichia coli